Reanalysis identified clinically significant variants in two patients (33.3% yield): one harboured a heterozygous pathogenic loss-of-function variant in the Diamond-Blackfan anemia gene RPL5, while the second exhibited compound heterozygous variants in the TERT gene, indicative of dyskeratosis congenita.<h4>Conclusions</h4>This study underscores the clinical value of reanalyzing existing genomic data in unresolved suspected genetic disorders, even when phenotype-specific assays are negative. The gene discussed is RPL5; the disease is Diamond-Blackfan anemia.